Biallelic KCNJ10 variants, encoding the Kir4.1 potassium channel, can cause cerebellar ataxia variably associated with intellectual disability, renal tubulopathy, sensorineural hearing loss and epilepsy (EAST or SeSAME syndrome, MIM:612780). 1,2 The predominant movement disorder, cerebellar ataxia, is typically non-pro...
C. Desjardins, Jiyoon Baik, Lorenzo Bresciani et al.· Movement Disorders Clinical...· 0 citations
Findings provide further evidence supporting the relevance of UA to the pathogenesis of neurodegenerative parkinsonism and offer opportunities for risk stratification and the investigation of UA-related interventions in patients with Caribbean parkinsonism.
Tanicia Mameri, R. Edragas, A. Chavonnet et al.· Journal of neural transmissi...· 0 citations
This work surveyed the literature, major conference proceedings, and expert networks to identify therapies approved, in clinical development, or supported by compelling preclinical data between 2022 and 2025, and focused on small molecules and genetic therapies for conditions in which movement disorders represent a pro...
C. D. de Gusmao, V. Katanaev, Laura Silveira-Moriyama et al.· Movement Disorders· 1 citation
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